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ClinGen Allele Registry
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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
17
g.41767386T>C
CA353980
JUP
c.902A>G (p.Glu301Gly)
c.953A>G (p.Glu318Gly)
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v4
17
g.41767386T=
CA2260175127
JUP
c.902A= (p.Glu301=)
c.953A= (p.Glu318=)
dbSNP
Number of alleles fetched
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